Gap-PCR在血红蛋白Bart胎儿水肿综合征诊断中的临床评价

Evaluation of the clinical diagnosis of Bart fetus dropsy syndrome with Gap-PCR

目的 对Gap—PCR在血红蛋白Bart胎儿水肿综合征诊断中的应用价值进行临床证据评估。方法 对144例可疑为东南亚缺失型α地中海贫血（α地贫-1）的孕妇所怀胎儿进行B超诊断和Q珠蛋白基因Gap—PCR分析。脐血标本在基因分析的同时进行血红蛋白Bart相对含量的电泳分析。以B超作为标准诊断评价Gap—PCR检测方法对α地贫-1纯合子的敏感性、特异性、准确性。结果 在144例标本中B超诊断血红蛋白Bart胎儿水肿综合征37例，Gap—PCR检测α地贫-1的纯合子有37例。Gap—PCR检测α地贫-1纯合子的敏感性、特异性和准确性均为100％。结论 α珠蛋白基因Gap—PCR分析方法对血红蛋白Bart胎儿水肿综合征的诊断具有高度特异性和敏感性。

Objective To evaluated the clinical diagnosis of Bart fetus dropsy syndrome with Gap-PCR. Methods Selected 144 pregnancy women with suspected α -thalassanemia. Bart fetus dropsy syndrome was identified with B-typing ultrasonic and the gene was analyzed with Gap-PCR. Meanwhile, electrophoresis of hemoglobin was performed with samples of the umbilical cord bloods for detection of the relative level of the fetus hemoglobin Bart and mean corpuscular volume. It was the golden standard that B-typing ultrasonic indicated the Bart fetus dropsy syndrome. The sensitivity,specificity and veracity of Gap-PCR for deletion of α-thalassanemia were analyzed. Results Thirty-seven out of 144 cases were characterized the Bart fetus dropsy syndrome with B-typing ultrasonic. Thirty-seven among them matched with results of the homorozygositys of α -thalassanemia diagnosed by Gap-PCR. The sensitivity of the gene analysis of the Bart fetus dropsy syndrome using Gap-PCR was 100% ,the specificity was 100%, and the veracity was 100%. Conclusion The Gap-PCR gene diagnosis is a credible method which is highly specific and sensitive in diagnosis of Bart fetus dropsy syndrome.